Incidental Mutation 'R0579:Timmdc1'
ID 56371
Institutional Source Beutler Lab
Gene Symbol Timmdc1
Ensembl Gene ENSMUSG00000002846
Gene Name translocase of inner mitochondrial membrane domain containing 1
Synonyms 2810021C21Rik, 4930455C21Rik
MMRRC Submission 038769-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0579 (G1)
Quality Score 223
Status Not validated
Chromosome 16
Chromosomal Location 38318709-38343025 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38342745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 51 (L51P)
Ref Sequence ENSEMBL: ENSMUSP00000002925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002925] [ENSMUST00000036210]
AlphaFold Q8BUY5
Predicted Effect probably benign
Transcript: ENSMUST00000002925
AA Change: L51P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002925
Gene: ENSMUSG00000002846
AA Change: L51P

DomainStartEndE-ValueType
Pfam:Tim17 74 207 4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036210
SMART Domains Protein: ENSMUSP00000038166
Gene: ENSMUSG00000034064

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CAP10 121 373 6.69e-102 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153187
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 89% (34/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit lethality. Heterozygous mice show an increased mean percentage of CD4 cells in the peripheral blood compared with controls, but no other notable heterozygous phenotype was detected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Abcf3 G A 16: 20,369,398 (GRCm39) R260Q probably benign Het
Abcg3 A G 5: 105,121,969 (GRCm39) V136A probably damaging Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Ambra1 A G 2: 91,654,810 (GRCm39) N783S possibly damaging Het
Cd300ld2 A G 11: 114,903,125 (GRCm39) F240S probably benign Het
Cep83 A G 10: 94,584,915 (GRCm39) D340G possibly damaging Het
Crybg2 T A 4: 133,800,049 (GRCm39) I403N probably damaging Het
Dnah14 T A 1: 181,572,312 (GRCm39) M2881K possibly damaging Het
Erbb4 T C 1: 68,081,621 (GRCm39) M1138V probably benign Het
Evi5 A G 5: 107,969,575 (GRCm39) V112A probably benign Het
F2r A G 13: 95,754,857 (GRCm39) V9A probably benign Het
Flot1 C A 17: 36,141,900 (GRCm39) S337R probably benign Het
Glt28d2 G A 3: 85,779,440 (GRCm39) T11I probably damaging Het
Gm19345 A G 7: 19,588,901 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Hmgcs2 A T 3: 98,198,264 (GRCm39) I56F probably damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Il21 T G 3: 37,281,923 (GRCm39) K74Q possibly damaging Het
Itpripl1 G T 2: 126,983,011 (GRCm39) Y370* probably null Het
Kif24 G A 4: 41,393,706 (GRCm39) P1056S probably damaging Het
L2hgdh A T 12: 69,748,046 (GRCm39) probably benign Het
Lipo2 A T 19: 33,724,298 (GRCm39) L156Q probably damaging Het
Nlrp4c T A 7: 6,063,844 (GRCm39) M84K probably benign Het
Npy4r G A 14: 33,868,640 (GRCm39) T216I probably benign Het
Or12d17 T C 17: 37,777,238 (GRCm39) V47A probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or6c1 A T 10: 129,518,106 (GRCm39) C167* probably null Het
Pafah1b2 T C 9: 45,880,011 (GRCm39) E222G probably benign Het
Pop1 T A 15: 34,510,115 (GRCm39) D406E possibly damaging Het
Proser1 A G 3: 53,374,572 (GRCm39) Y32C probably damaging Het
Ptprj C A 2: 90,266,913 (GRCm39) probably null Het
Slc1a3 T A 15: 8,717,793 (GRCm39) I100F probably damaging Het
Slc25a22 T C 7: 141,011,272 (GRCm39) D176G probably damaging Het
Stard7 T C 2: 127,126,473 (GRCm39) V99A probably damaging Het
Stk33 C T 7: 108,924,904 (GRCm39) V184I probably damaging Het
Tppp T C 13: 74,169,352 (GRCm39) S31P probably benign Het
Upf2 A T 2: 5,993,240 (GRCm39) R599W unknown Het
Vav1 G T 17: 57,586,271 (GRCm39) W25L probably benign Het
Other mutations in Timmdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Timmdc1 APN 16 38,338,747 (GRCm39) missense probably benign 0.01
IGL01470:Timmdc1 APN 16 38,338,902 (GRCm39) splice site probably benign
IGL02480:Timmdc1 APN 16 38,342,763 (GRCm39) missense probably null 0.05
IGL03241:Timmdc1 APN 16 38,331,071 (GRCm39) splice site probably benign
R0106:Timmdc1 UTSW 16 38,342,724 (GRCm39) missense probably damaging 1.00
R1054:Timmdc1 UTSW 16 38,342,790 (GRCm39) missense probably benign 0.00
R1661:Timmdc1 UTSW 16 38,331,079 (GRCm39) critical splice donor site probably null
R1665:Timmdc1 UTSW 16 38,331,079 (GRCm39) critical splice donor site probably null
R1793:Timmdc1 UTSW 16 38,319,419 (GRCm39) missense possibly damaging 0.89
R2135:Timmdc1 UTSW 16 38,319,313 (GRCm39) missense probably benign 0.01
R6234:Timmdc1 UTSW 16 38,338,861 (GRCm39) nonsense probably null
R7472:Timmdc1 UTSW 16 38,325,780 (GRCm39) nonsense probably null
R8169:Timmdc1 UTSW 16 38,331,148 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- CATGTCAACCAGGTCGGACACTATC -3'
(R):5'- CAGTTCCAGTTTCTACGTCCCGAG -3'

Sequencing Primer
(F):5'- CACTATCCGGGCAGAGAGAAC -3'
(R):5'- AGGTTCAGTGTCCCCCAAC -3'
Posted On 2013-07-11